OMIA 002140-9615 : Exercise induced metabolic myopathy in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ACADVL||acyl-CoA dehydrogenase, very long chain||Canis lupus familiaris||5||NC_051809.1 (32294698..32299874)||ACADVL||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|German Hunting Terrier||Exercise induced metabolic myopathy||ACADVL||nonsense (stop-gain)||CanFam3.1||5||g.32193689C>A||c.1728C>A||p.Tyr576*||2018||29491033|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2019||Mühlhause, F., Tipold, A., Rohn, K., Lepori, V., Leeb, T., Sewell, A.C., Kornberg, M. :|
|[Follow-up study in German Hunting Terrier dogs with exercise induced metabolic myopathy]. Tierarztl Prax Ausg K Kleintiere Heimtiere 47:402-410, 2019. Pubmed reference: 31814088. DOI: 10.1055/a-1027-2533.|
|2018||Lepori, V., Mühlhause, F., Sewell, A.C., Jagannathan, V., Janzen, N., Rosati, M., Maximiano Alves de Sousa, F.M., Tschopp, A., Schüpbach, G., Matiasek, K., Tipold, A., Leeb, T., Kornberg, M., Lepori, V., Mühlhause, F., Sewell, A.C., Jagannathan, V., Janzen, N., Rosati, M., Alves de Sousa, F.M.M., Tschopp, A., Schüpbach, G., Matiasek, K., Tipold, A., Leeb, T., Kornberg, M. :|
|A Nonsense Variant in the <i>ACADVL</i> Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy. G3 (Bethesda) 8:1545-1554, 2018. Pubmed reference: 29491033. DOI: 10.1534/g3.118.200084.|
- Created by Frank Nicholas on 05 Mar 2018
- Changed by Frank Nicholas on 05 Mar 2018
- Changed by Tosso Leeb on 05 Mar 2018